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Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and...
Autores principales: | Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J. E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L. I., van Aalten, Daan M. F., Lefeber, Dirk J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535036/ https://www.ncbi.nlm.nih.gov/pubmed/28584052 http://dx.doi.org/10.1074/jbc.M117.790097 |
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